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RELN gene
URL of this page: https://medlineplus.gov/genetics/gene/reln/

RELN gene

reelin

Normal Function

The RELN gene provides instructions for making a protein called reelin. This protein is produced in the brain both before and after birth. Reelin is released by certain brain cells. After being released, it attaches (binds) to specific receptor proteins. In the developing brain, this binding turns on (activates) a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations.

After birth, reelin likely plays a role in many brain processes, including the extension of axons and dendrites, which are specialized outgrowths from nerve cells that are essential for the transmission of nerve impulses. Reelin may also regulate synaptic plasticity, which is the ability of connections between neurons (synapses) to change and adapt over time in response to experience. Additionally, reelin controls the release of chemicals that relay signals in the nervous system (neurotransmitters).

Health Conditions Related to Genetic Changes

Autosomal dominant epilepsy with auditory features

Variants (also called mutations) in the RELN gene can cause autosomal dominant epilepsy with auditory features (ADEAF). People with this rare form of epilepsy typically hear sounds, like buzzing or humming, during seizures. 

RELN gene variants associated with ADEAF reduce the amount of reelin in the body. Research suggests that a shortage of reelin impairs the formation or function of synapses, where cell-to-cell communication occurs. Abnormal communication between neurons can lead to seizure activity in the brain.

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Lissencephaly with cerebellar hypoplasia

Several variants in the RELN gene have been found to cause lissencephaly with cerebellar hypoplasia (LCH). This condition affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the brain region involved in coordinating movements is unusually small and underdeveloped (cerebellar hypoplasia).

The RELN gene variants that cause LCH lead to a complete lack of reelin. As a result, the signaling pathway that triggers neuronal migration is not activated. Without reelin, neurons are disorganized, the normal folds and grooves of the brain do not form, and brain structures do not develop properly. This leads to intellectual disabilities, delays in overall development, movement problems, and other signs and symptoms of LCH.

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Autism spectrum disorder

Certain genetic changes that reduce but do not eliminate the production of reelin may increase a person's risk of autism spectrum disorder, a condition that affects communication and social interaction. However, some studies have not supported these findings. Many genetic and environmental factors are believed to contribute to this complex condition.

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Myoclonus-dystonia

MedlinePlus Genetics provides information about Myoclonus-dystonia

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Other disorders

Studies have shown that certain variations (polymorphisms) in the RELN gene are associated with an increased risk of psychiatric disorders such as schizophrenia and bipolar disorder. Women with these polymorphisms are at particular risk of developing bipolar disorder. However, many genetic and environmental factors likely contribute to the development of these complex conditions.

Other Names for This Gene

  • LIS2
  • PRO1598
  • RELN_HUMAN
  • RL

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Chang BS, Duzcan F, Kim S, Cinbis M, Aggarwal A, Apse KA, Ozdel O, Atmaca M, Zencir S, Bagci H, Walsh CA. The role of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg.b.30392. Citation on PubMed
  • Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020. Citation on PubMed
  • Goes FS, Willour VL, Zandi PP, Belmonte PL, MacKinnon DF, Mondimore FM, Schweizer B; National Institute of Mental Health Genetics Initiative Bipolar Disorder Consortium; DePaulo JR Jr, Gershon ES, McMahon FJ, Potash JB. Sex-specific association of the Reelin gene with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):549-553. doi: 10.1002/ajmg.b.31018. Citation on PubMed or Free article on PubMed Central
  • Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246. Erratum In: Nat Genet 2001 Feb;27(2):225. Citation on PubMed
  • Lakatosova S, Ostatnikova D. Reelin and its complex involvement in brain development and function. Int J Biochem Cell Biol. 2012 Sep;44(9):1501-4. doi: 10.1016/j.biocel.2012.06.002. Epub 2012 Jun 15. Citation on PubMed
  • Ventruti A, Kazdoba TM, Niu S, D'Arcangelo G. Reelin deficiency causes specific defects in the molecular composition of the synapses in the adult brain. Neuroscience. 2011 Aug 25;189:32-42. doi: 10.1016/j.neuroscience.2011.05.050. Epub 2011 Jun 2. Citation on PubMed
  • Wedenoja J, Tuulio-Henriksson A, Suvisaari J, Loukola A, Paunio T, Partonen T, Varilo T, Lonnqvist J, Peltonen L. Replication of association between working memory and Reelin, a potential modifier gene in schizophrenia. Biol Psychiatry. 2010 May 15;67(10):983-91. doi: 10.1016/j.biopsych.2009.09.026. Epub 2009 Nov 17. Citation on PubMed or Free article on PubMed Central
  • Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 1;143A(9):939-44. doi: 10.1002/ajmg.a.31667. Citation on PubMed

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